Published in J Med Genet on May 06, 2016
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Ciliopathies. N Engl J Med (2011) 6.28
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. Neuron (2007) 2.53
The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet (1984) 2.06
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol (2011) 1.92
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83
Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol (2009) 1.48
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet (2006) 1.42
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol (1978) 1.39
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
Centrosome motility is essential for initial axon formation in the neocortex. J Neurosci (2010) 1.29
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly. J Cell Biol (2010) 1.29
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis (2012) 1.15
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet (2015) 1.14
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife (2015) 1.12
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet (2012) 1.11
CEP120 interacts with CPAP and positively regulates centriole elongation. J Cell Biol (2013) 1.09
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.07
Uncommon posterior cranial fossa anomalies: MRI with clinical correlation. Neuroradiology (1995) 0.99
Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet (2013) 0.98
Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis (2013) 0.98
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A (2010) 0.96
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet (2013) 0.95
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet (2014) 0.92
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet (2015) 0.92
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Hum Genet (2014) 0.90
Inverse cerebellum morphogenetically related to Dandy-Walker and Arnold-Chiari syndromes: bizarre malformed brain with occipital encephalocele. Johns Hopkins Med J (1972) 0.89
Tectocerebellar dysraphia and occipital encephalocele: an unusual association with abdominal situs inversus and congenital heart disease. Indian J Pediatr (2008) 0.89
KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat (2015) 0.88
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet (2015) 0.86
Occipital extra- and intracranial lipoencephalocele associated with tectocerebellar dysraphia. Childs Nerv Syst (2004) 0.86
Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PLoS One (2014) 0.85
Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics (2011) 0.84
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis (2014) 0.84
Tectocerebellar dysraphism with vermian encephalocele. J Child Neurol (2010) 0.82
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife (2015) 0.80
New concepts on posterior fossa malformations. Pediatr Radiol (2008) 0.77
Pretectal pseudobobbing associated with an expanding posterior fossa cyst in tectocerebellar dysraphia: an electro-oculographic study. J Neurol (1999) 0.77
The molar tooth sign is pathognomonic for Joubert syndrome! Pediatr Neurol (2013) 1.56
Nationwide survey of Arima syndrome: a note of doubt. Brain Dev (2013) 1.38
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife (2015) 1.12
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet (2015) 1.05
Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI. Brain Dev (2015) 0.84
Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Semin Neurol (2014) 0.84
Somatic copy number alterations predict response to platinum therapy in epithelial ovarian cancer. Gynecol Oncol (2014) 0.83
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet (2017) 0.80
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat (2016) 0.78
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders. Mol Cancer (2015) 0.77
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet (2017) 0.77
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum Ataxias (2016) 0.75
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Hum Genet (2022) 0.75
Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report. Res Dev Disabil (2015) 0.75